Fabry disease: a survey of visual and ocular symptoms

PURPOSE To evaluate a visual symptoms survey on patients with a known diagnosis of Fabry disease, and to compare the scores to those from a group of healthy subjects. MATERIALS AND METHODS An ocular symptom survey instrument was used to evaluate the symptoms of general ocular problems like itching, tearing, dryness, burning sensation, sensation of foreign body, difficulty in scotopic and photopic vision, and asthenopic symptoms. The survey instrument was administered to 95 participants (75 patients with Fabry disease and 20 healthy controls; median age: 32.5 years [standard deviation: 19.1 years] and 42.6 years [standard deviation: 14.7 years], respectively). A Mann-Whitney test was performed to evaluate the difference between the Fabry group and the healthy controls for each symptom survey severity score. A P-value <0.05 was considered significant. RESULTS Of the survey instrument items, it was found that compared to the control group, the mean severity score of the Fabry disease group was significant for "dryness" of the eyes (P=0.02), "blurry/dim vision" (P=0.02), "hard to see in dark places" (P=0.01), and "halos around light" (P=0.01). The Fabry group also had a mean severity score for "soreness/tiredness" that was significantly higher than that of the control group (P=0.009). CONCLUSION The patients with Fabry disease may be suffering from ocular and visual symptoms related to manifestations of the disease. Further quantitative testing is needed to investigate the ocular and visual symptoms.